De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature
, oraz | 25 sie 2010
O artykule
Data publikacji: 25 sie 2010
Zakres stron: 35 - 37
DOI: https://doi.org/10.2478/v10034-010-0016-6
Słowa kluczowe
This content is open access.
Cytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.